Detection of deleted mitochondrial genomes in cytochrome-c oxidase-deficient muscle fibers of a patient with Kearns-Sayre syndrome

Journal Article · Fri Dec 01 04:00:00 EST 1989 · Proceedings of the National Academy of Sciences of the United States of America; (USA)

DOI:https://doi.org/10.1073/pnas.86.23.9509· OSTI ID:6921616

Mita, S; Schmidt, B; Schon, E A; DiMauro, S; Bonilla, E ^[1]

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1. Columbia-Presbyterian Medical Center, New York, NY (USA)

Using in situ hybridization and immunocytochemistry, the authors studied a muscle biopsy sample from a patient with Kearns-Sayre syndrome (KSS) who had a deletion of mitochondrial DNA (mtDNA) and partial deficiency of cytochrome-c oxidase. They sought a relationship between COX deficiency and abnormalities of mtDNA at the single-fiber level. COX deficiency clearly correlated with a decrease of normal mtDNA and, conversely, deleted mtDNA was more abundant in COX-deficient fibers, especially ragged-red fibers. The distribution of mtRNA has a similar pattern, suggesting that deleted mtDNA is transcribed. Immunocytochemistry showed that the nuclear DNA-encoded subunit IV of COX was present but that the mtDNA-encoded subunit II was markedly diminished in COX-deficient ragged-red fibers. Because the mtDNA deletion in this patient did not comprise the gene encoding COX subunit II, COX deficiency may have resulted from lack of translation of mtRNA encoding all three mtDNA-encoded subunits of COX.

• OSTI ID: 6921616
• Journal Information: Proceedings of the National Academy of Sciences of the United States of America; (USA), Journal Name: Proceedings of the National Academy of Sciences of the United States of America; (USA) Vol. 86:23; ISSN 0027-8424; ISSN PNASA
• Country of Publication: United States
• Language: English

Related Subjects

550201* -- Biochemistry-- Tracer Techniques
59 BASIC BIOLOGICAL SCIENCES
AUTORADIOGRAPHY
BETA DECAY RADIOISOTOPES
BETA-MINUS DECAY RADIOISOTOPES
BIOCHEMISTRY
CELL CONSTITUENTS
CHEMISTRY
CYTOCHEMISTRY
CYTOCHROME OXIDASE
DAYS LIVING RADIOISOTOPES
DISEASES
DISTRIBUTION
DNA
DNA HYBRIDIZATION
ENZYMES
EVEN-ODD NUCLEI
GENE MUTATIONS
HAEM DEHYDROGENASES
HEREDITARY DISEASES
HYBRIDIZATION
ISOTOPES
LIGHT NUCLEI
MESSENGER-RNA
MITOCHONDRIA
MUSCLES
MUTATIONS
NUCLEI
NUCLEIC ACIDS
NUCLEOTIDES
ORGANIC COMPOUNDS
ORGANOIDS
OXIDOREDUCTASES
PATHOGENESIS
PATIENTS
RADIOISOTOPES
RNA
SUBCELLULAR DISTRIBUTION
SULFUR 35
SULFUR ISOTOPES